186 research outputs found
Living Away from Home: the Long Term Substitute Care of Disabled Children
The Centre for Child Care Research at Queen\u27s University Belfast has been involved in a three and a half year, three part study reviewing how the services provided to meet the needs of these children and young people with disabilities have been affected by the implementation of the Children (Northern Ireland) Order 1995. This article reviews the research literature pertaining to long-term substitute care for children with disabilities in the UK and, with regard to the Children (NI) Order Legislation, will present some results from a survey about such services provided by the 11 Northern Ireland Health and Social Services Trusts undertaken by the Centre for Child Care Research (Monteith & Cousins, 1999). Particular attention is given to adoption and fostering, residential homes, residential schools, hospital placements and disabled children\u27s own experiences of using, and leaving, long-term care
Scenarios for the Altamira cave CO2 concentration from 1950 to 2100
A data-driven approach insensitive to the initial conditions was developed to extract governing equations for the concentration of CO2 in the Altamira cave (Spain) and its two main drivers: the outside temperature and the soil moisture. This model was then reformulated in order to use satellite observations and meteorological predictions, as a forcing. The concentration of CO2 inside the cave was then investigated from 1950 to 2100 under various scenarios. It is found that extreme levels of CO2 were reached during the period 1950–1972 due to the massive affluence of visitors. It is demonstrated that it is possible to monitor the CO2 in the cave in real time using satellite information as an external forcing. For the future, it is shown that the maximum values of CO2 will exceed the levels reached during the 1980s and the 1990s when the CO2 introduced by the touristic visits, although intentionally reduced, still enhanced considerably the micro corrosion of walls and pigments.This work was supported by the French programs Les Enveloppes Fluides et l’Environnement (CNRS-INSU), Défi Infinity (CNRS) and Programme National de Télédétection Spatiale (CNRS-INSU), Spirale (IRD). This research was also supported by the Spanish Ministry of Science and Innovation through project PID2019-110603RB-I00
A Powerful Statistical Framework for Generalization Testing in GWAS, with Application to the HCHS/SOL
In GWAS, “generalization” is the replication of genotype-phenotype association in a population with different ancestry than the population in which it was first identified. The standard for reporting findings from a GWAS requires a two-stage design, in which discovered associations are replicated in an independent follow-up study. Current practices for declaring generalizations rely on testing associations while controlling the Family Wise Error Rate (FWER) in the discovery study, then separately controlling error measures in the follow-up study. While this approach limits false generalizations, we show that it does not guarantee control over the FWER or False Discovery Rate (FDR) of the generalization null hypotheses. In addition, it fails to leverage the two-stage design to increase power for detecting generalized associations. We develop a formal statistical framework for quantifying the evidence of generalization that accounts for the (in)consistency between the directions of associations in the discovery and follow-up studies. We develop the directional generalization FWER (FWERg) and FDR (FDRg) controlling r-values, which are used to declare associations as generalized. This framework extends to generalization testing when applied to a published list of SNP-trait associations. We show that our framework accommodates various SNP selection rules for generalization testing based on p-values in the discovery study, and still control FWERg or FDRg. A key finding is that it is often beneficial to use a more lenient p-value threshold then the genome-wide significance threshold. For instance, in a GWAS of Total Cholesterol (TC) in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL), when testing all SNPs with p-values\u3c 5 × 10−8 (15 genomic regions) for generalization in a large GWAS of whites, we generalized SNPs from 15 regions. But when testing all SNPs with p-values\u3c 6.6×10−5 (89 regions), we generalized SNPs from 27 regions
Painful rib hump: a new clinical sign for detecting intraspinal rib displacement in scoliosis due to neurofibromatosis
BACKGROUND: Spinal cord compression and associate neurological impairment is rare in patients with scoliosis and neurofibromatosis. Common reasons are vertebral subluxation, dislocation, angulation and tumorous lesions around the spinal canal. Only twelve cases of intraspinal rib dislocation have been reported in the literature. The aim of this report is to present a case of rib penetration through neural foramen at the apex of a scoliotic curve in neurofibromatosis and to introduce a new clinical sign for its detection. METHODS: A 13-year-old girl was evaluated for progressive left thoracic kyphoscoliotic curve due to a type I neurofibromatosis. Clinical examination revealed multiple large thoracic and abdominal "cafe-au-lait" spots, neurological impairment of the lower limbs and the presence of a thoracic gibbous that was painful to pressure at the level of the left eighth rib (Painful Rib Hump). CT-scan showed detachment and translocation of the cephalic end of the left eighth rib into the adjacent enlarged neural foramen. The M.R.I. examination of the spine showed neither cord abnormality nor neurogenic tumor. RESULTS: The patient underwent resection of the intraspinal mobile eighth rib head and posterior spinal instrumentation and was neurologically fully recovered six months postoperatively. CONCLUSION: Spine surgeons should be aware of intraspinal rib displacement in scoliotic curves in neurofibromatosis. Painful rib hump is a valuable diagnostic tool for this rare clinical entity
Clinical and molecular consequences of exon 78 deletion in DMD gene
We present a 13-year-old patient with persistent increase of serum Creatine Kinase (CK) and myalgia after exertion. Skeletal muscle biopsy showed marked reduction of dystrophin expression leading to genetic analysis of DMD gene by MLPA, which detected a single deletion of exon 78. To the best of our knowledge, DMD exon 78 deletion has never been described in literature and, according to prediction, it should lead to loss of reading frame in the dystrophin gene. To further assess the actual effect of exon 78 deletion, we analysed cDNA from muscle mRNA. This analysis confirmed the absence of 32 bp of exon 78. Exclusion of exon 78 changes the open reading frame of exon 79 and generate a downstream stop codon, producing a dystrophin protein of 3703 amino acids instead of 3685 amino acids. Albeit loss of reading frame usually leads to protein degradation and severe phenotype, in this case, we demonstrated that deletion of DMD exon 78 can be associated with a functional protein able to bind DGC complex and a very mild phenotype. This study adds a novel deletion in DMD gene in human and helps to define the compliance between maintaining/disrupting the reading frame and clinical form of the disease
Short-term behavioural responses to thermal stress by hawksbill turtles in the Arabian region
We present a previously unrecorded short-term behavioural response by hawksbill sea turtles to elevated sea surface temperatures in the Persian/Arabian Gulf. Surface waters typically exceed 30°C for sustained periods during the summer, and can be likened to a natural living laboratory for understanding thermoregulatory behaviour by marine species in the face of climate change and elevated global temperatures. We satellite-tracked 90 post-nesting hawksbill turtles between 2010 and 2013 as part of a larger programme to elucidate turtle foraging habitats and post-nesting behaviour. We used 66 of these datasets, where turtles clearly departed and returned to foraging grounds, for these analyses. Sea surface temperatures during the summer averaged 33.5°C and peaked at 34.9°C. During these elongated periods of elevated temperatures (June–August) the turtles temporarily migrated an average of 70km to deeper and cooler waters at northern latitudes, returning after 2–3months (September–October) back to original feeding grounds. Temperature differential T∆ between foraging and summer loop habitats was significantly different and approximated −2°C. Turtles undertaking summer migration loops generally moved in a north-easterly direction toward deeper water, returning in a south-westerly direction to the shallower foraging grounds. Swim speeds were significantly higher and orientation was less omnidirectional during the migrations than when foraging. The outbound migrations were significantly inversely correlated with temperature, but were not linked to chlorophyll-a, geostrophic currents or sea surface height. The turtles' preference for returning to the same foraging grounds suggests a lack of other substantial influences which might have precipitated the temporary summer migration loops. Our results indicate that Gulf hawksbills employ thermoregulatory responses which take them out of high temperature and potentially physiology-threatening conditions. These findings improve our overall understanding of hawksbill habitat use and behaviour in a climate-challenged environment, and support sea turtle conservation-related policy decision-making at national and regional levels.Emirates Wildlife Society—World Wild Fund for Nature Office. 7Days, Abu Dhabi Urban Planning Council, Bridgestone, CASP, College of the North Atlantic, Qatar, Deutsche Bank, Dubai Electricity & Water Authority, Dubai Festival City, Emirates Palace, Environment & Protected Areas Authority, Sharjah, Environment Agency—Abu Dhabi, Fairmont, Géant, Gulftainer, HSBC, Intercontinental, Dubai Festival City, Jebel Ali Golf Resort & Spa, Jumeirah Etihad Towers, Linklaters, Momentum Logistics, Mubadala, Murjan Marinas, Nokia, Sheikha Salama bint Hamdan Al Nahyan Foundation, The Club, TimeOut Dubai, and the Young Presidents Organisation
Identification of Important Sea Turtle Areas (ITAs) for hawksbill turtles in the Arabian Region
We present the first data on hawksbill turtle post-nesting migrations and behaviour in the Arabian region. Tracks from 90 post-nesting turtles (65 in the Gulf and 25 from Oman) revealed that hawksbills in the Arabian region may nest up to 6 times in a season with an average of 3 nests per turtle. Turtles from Qatar, Iran and the UAE generally migrated south and southwest to waters shared by the UAE and Qatar. A smaller number of turtles migrated northward towards Bahrain, Saudi Arabia and one reached Kuwait. Omani turtles migrated south towards Masirah island and to Quwayrah, staying close to the mainland and over the continental shelf. The widespread dispersal of hawksbill foraging grounds across the SW Gulf may limit habitat protection options available to managers, and we suggest these be linked to preservation of shallow water habitats and fishery management. In contrast, the two main foraging areas in Oman were small and could be candidates for protected area consideration. Critical migration bottlenecks were identified at the easternmost point of the Arabian Peninsula as turtles from Daymaniyat Islands migrate southward, and between Qatar and Bahrain. Overall, Gulf turtles spent 68% of the time in foraging ground with home ranges of 40–60km2 and small core areas of 6km2. Adult female turtles from Oman were significantly larger than Gulf turtles by ~11cm x¯=81.4CCL and spent 83% of their time foraging in smaller home ranges with even smaller core areas (~3km2), likely due to better habitat quality and food availability. Gulf turtles were among the smallest in the world x¯=70.3CCL and spent an average of 20% of time undertaking summer migration loops, a thermoregulatory response to avoid elevated sea surface temperatures, as the Gulf regularly experiences sustained sea surface temperatures >30°C. Fishery bycatch was determined for two of the 90 turtles. These spatio-temporal findings on habitat use will enable risk assessments for turtles in the face of multiple threats including oil and gas industries, urban and industrial development, fishery pressure, and shipping. They also improve our overall understanding of hawksbill habitat use and behaviour in the Arabian region, and will support sea turtle conservation-related policy decision-making at national and regional levels.Emirates Wildlife Society–World Wild Fund for Nature. 7Days, Abu Dhabi Urban Planning Council, Bridgestone, CASP, College of the North Atlantic-Qatar, Deutsche Bank, Dubai Electricity & Water Authority, Dubai Festival City, Emirates Palace, Environment & Protected Areas Authority, Sharjah, Environment Agency–Abu Dhabi, Fairmont, Géant, Gulftainer, HSBC, Intercontinental, Dubai Festival City, Jebel Ali Golf Resort & Spa, Jumeirah Etihad Towers, Linklaters, Momentum Logistics, Mubadala, Murjan Marinas, Nokia, Sheikha Salama bint Hamdan Al Nahyan Foundation, The Club, TimeOut Dubai, and the Young Presidents Organisation
Fundamentals of impulsive energy release in the corona
It is essential that there be coordinated and co-optimized observations in
X-rays, gamma-rays, and EUV during the peak of solar cycle 26 (~2036) to
significantly advance our understanding of impulsive energy release in the
corona. The open questions include: What are the physical origins of
space-weather events? How are particles accelerated at the Sun? How is
impulsively released energy transported throughout the solar atmosphere? How is
the solar corona heated? Many of the processes involved in triggering, driving,
and sustaining solar eruptive events -- including magnetic reconnection,
particle acceleration, plasma heating, and energy transport in magnetized
plasmas -- also play important roles in phenomena throughout the Universe. This
set of observations can be achieved through a single flagship mission or, with
foreplanning, through a combination of major missions (e.g., the previously
proposed FIERCE mission concept).Comment: White paper submitted to the Decadal Survey for Solar and Space
Physics (Heliophysics) 2024-2033; 5 pages, 1 figur
Unraveling the attitudes on entrepreneurial universities: the case of Croatian and Spanish universities
The objective of this paper is to present evidence that there are different types of supportive faculty members. We conducted a case study on a sample of Croatian and Spanish universities by using an already tested ENTRE-U scale for measuring the faculty members’ attitudes. These two scenarios are quite different in terms of their innovation systems, economic context and university system. We tested and found no evidence of any statistically significant difference due to the country. These two facts suggest the possible existence of an isomorphic trajectory when implementing entrepreneurial universities regardless the context. University managers should be aware of the existence of three different types of supportive individuals. Each of these groups requires a certain program of human resource development. This shifts the debate to how entrepreneurial universities should manage the tensions arising from the need of some degree of specialization in any of the three roles of the faculty members, namely teaching, researching and transfer of the knowledge stemming from research results
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